| 17 | g.63971101G>A | CA2639324752 | SCN4A | c.703+61C>T (n.703+61C>T)
| gnomAD v4 |
| 17 | g.63971101G>C | CA2639324753 | SCN4A | c.703+61C>G (n.703+61C>G)
| gnomAD v4 |
| 17 | g.63971101G>T | CA2639324754 | SCN4A | c.703+61C>A (n.703+61C>A)
| gnomAD v4 |
| 17 | g.63971102C>A | CA2639324778 | SCN4A | c.703+60G>T (n.703+60G>T)
| gnomAD v4 |
| 17 | g.63971102C= | CA2270175184 | SCN4A | c.703+60G= (n.703+60G=)
| |
| 17 | g.63971102C>T | CA2270175185 | SCN4A | c.703+60G>A (n.703+60G>A)
| dbSNP gnomAD v4 |
| 17 | g.63971109_63971150del | CA2639324758 | SCN4A | c.703+19_703+60del (n.703+19_703+60del)
| gnomAD v4 |
| 17 | g.63971103C>A | CA2639324780 | SCN4A | c.703+59G>T (n.703+59G>T)
| gnomAD v4 |
| 17 | g.63971104T>A | CA2639324782 | SCN4A | c.703+58A>T (n.703+58A>T)
| gnomAD v4 |
| 17 | g.63971104T>C | CA2270175186 | SCN4A | c.703+58A>G (n.703+58A>G)
| dbSNP gnomAD v4 |
| 17 | g.63971104T= | CA2270175187 | SCN4A | c.703+58A= (n.703+58A=)
| |
| 17 | g.63971105G>A | CA2576356159 | SCN4A | c.703+57C>T (n.703+57C>T)
| |
| 17 | g.63971105G>T | CA2639324783 | SCN4A | c.703+57C>A (n.703+57C>A)
| gnomAD v4 |
| 17 | g.63971106C>A | CA985437602 | SCN4A | c.703+56G>T (n.703+56G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971106C= | CA2270175188 | SCN4A | c.703+56G= (n.703+56G=)
| |
| 17 | g.63971106C>T | CA292972530 | SCN4A | c.703+56G>A (n.703+56G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971107A= | CA2270175189 | SCN4A | c.703+55T= (n.703+55T=)
| |
| 17 | g.63971107A>C | CA2270175190 | SCN4A | c.703+55T>G (n.703+55T>G)
| dbSNP |
| 17 | g.63971107A>G | CA14498415 | SCN4A | c.703+55T>C (n.703+55T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971107A>T | CA774007968 | SCN4A | c.703+55T>A (n.703+55T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971108C>A | CA2639324800 | SCN4A | c.703+54G>T (n.703+54G>T)
| gnomAD v4 |
| 17 | g.63971108C>T | CA2733863266 | SCN4A | c.703+54G>A (n.703+54G>A)
| dbSNP |
| 17 | g.63971110T>A | CA774007970 | SCN4A | c.703+52A>T (n.703+52A>T)
| dbSNP gnomAD v4 |
| 17 | g.63971110T>G | CA2639324812 | SCN4A | c.703+52A>C (n.703+52A>C)
| gnomAD v4 |
| 17 | g.63971110T= | CA2270175191 | SCN4A | c.703+52A= (n.703+52A=)
| |
| 17 | g.63971111G>A | CA985437608 | SCN4A | c.703+51C>T (n.703+51C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971111G= | CA2270175192 | SCN4A | c.703+51C= (n.703+51C=)
| |
| 17 | g.63971111G>T | CA2576356160 | SCN4A | c.703+51C>A (n.703+51C>A)
| gnomAD v4 |
| 17 | g.63971112del | CA2639324819 | SCN4A | c.703+51del (n.703+51del)
| gnomAD v4 |
| 17 | g.63971112G>A | CA774007971 | SCN4A | c.703+50C>T (n.703+50C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971112G= | CA2270175193 | SCN4A | c.703+50C= (n.703+50C=)
| |
| 17 | g.63971112G>T | CA8710074 | SCN4A | c.703+50C>A (n.703+50C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971113T>A | CA2639324831 | SCN4A | c.703+49A>T (n.703+49A>T)
| gnomAD v4 |
| 17 | g.63971113T>G | CA2639324836 | SCN4A | c.703+49A>C (n.703+49A>C)
| gnomAD v4 |
| 17 | g.63971114A>C | CA2639324837 | SCN4A | c.703+48T>G (n.703+48T>G)
| gnomAD v4 |
| 17 | g.63971115C>A | CA2639324842 | SCN4A | c.703+47G>T (n.703+47G>T)
| gnomAD v4 |
| 17 | g.63971115C= | CA2270175194 | SCN4A | c.703+47G= (n.703+47G=)
| |
| 17 | g.63971115C>T | CA8710075 | SCN4A | c.703+47G>A (n.703+47G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971115_63971116delinsCG | CA2270175195 | SCN4A | c.703+46_703+47delinsCG (n.703+46_703+47delinsCG)
| |
| 17 | g.63971116G>A | CA8710076 | SCN4A | c.703+46C>T (n.703+46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971116G>C | CA2576356161 | SCN4A | c.703+46C>G (n.703+46C>G)
| gnomAD v4 |
| 17 | g.63971116G= | CA2270175196 | SCN4A | c.703+46C= (n.703+46C=)
| |
| 17 | g.63971116G>T | CA2639324854 | SCN4A | c.703+46C>A (n.703+46C>A)
| gnomAD v4 |
| 17 | g.63971120del | CA626863604 | SCN4A | c.703+46del (n.703+46del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971117G>T | CA2639324859 | SCN4A | c.703+45C>A (n.703+45C>A)
| gnomAD v4 |
| 17 | g.63971118G>C | CA2639324867 | SCN4A | c.703+44C>G (n.703+44C>G)
| gnomAD v4 |
| 17 | g.63971118G= | CA2270175197 | SCN4A | c.703+44C= (n.703+44C=)
| |
| 17 | g.63971118G>T | CA626863605 | SCN4A | c.703+44C>A (n.703+44C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971119G>A | CA2521069413 | SCN4A | c.703+43C>T (n.703+43C>T)
| gnomAD v4 |
| 17 | g.63971119G= | CA2270175198 | SCN4A | c.703+43C= (n.703+43C=)
| |
| 17 | g.63971119G>T | CA292972535 | SCN4A | c.703+43C>A (n.703+43C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971120G>A | CA2639324897 | SCN4A | c.703+42C>T (n.703+42C>T)
| gnomAD v4 |
| 17 | g.63971120G>C | CA2639324899 | SCN4A | c.703+42C>G (n.703+42C>G)
| gnomAD v4 |
| 17 | g.63971120G>T | CA2576356162 | SCN4A | c.703+42C>A (n.703+42C>A)
| gnomAD v4 |
| 17 | g.63971121T>C | CA2639324903 | SCN4A | c.703+41A>G (n.703+41A>G)
| gnomAD v4 |
| 17 | g.63971121T>G | CA2639324905 | SCN4A | c.703+41A>C (n.703+41A>C)
| gnomAD v4 |
| 17 | g.63971122C>T | CA2639324912 | SCN4A | c.703+40G>A (n.703+40G>A)
| gnomAD v4 |
| 17 | g.63971123T>A | CA2639324928 | SCN4A | c.703+39A>T (n.703+39A>T)
| gnomAD v4 |
| 17 | g.63971123T>C | CA2639324924 | SCN4A | c.703+39A>G (n.703+39A>G)
| gnomAD v4 |
| 17 | g.63971124C>A | CA2639324933 | SCN4A | c.703+38G>T (n.703+38G>T)
| gnomAD v4 |
| 17 | g.63971124C>G | CA2733863293 | SCN4A | c.703+38G>C (n.703+38G>C)
| dbSNP |
| 17 | g.63971124C>T | CA2639324929 | SCN4A | c.703+38G>A (n.703+38G>A)
| gnomAD v4 |
| 17 | g.63971125T>G | CA2639324937 | SCN4A | c.703+37A>C (n.703+37A>C)
| gnomAD v4 |
| 17 | g.63971126C= | CA2270175199 | SCN4A | c.703+36G= (n.703+36G=)
| |
| 17 | g.63971126C>G | CA656835717 | SCN4A | c.703+36G>C (n.703+36G>C)
| COSMIC |
| 17 | g.63971126C>T | CA626863606 | SCN4A | c.703+36G>A (n.703+36G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971127del | CA2596764899 | SCN4A | c.703+35del (n.703+35del)
| gnomAD v3 |
| 17 | g.63971127A>C | CA2639324947 | SCN4A | c.703+35T>G (n.703+35T>G)
| gnomAD v4 |
| 17 | g.63971127A>G | CA2639324950 | SCN4A | c.703+35T>C (n.703+35T>C)
| gnomAD v4 |
| 17 | g.63971127A>T | CA2639324952 | SCN4A | c.703+35T>A (n.703+35T>A)
| gnomAD v4 |
| 17 | g.63971128G>C | CA2639324955 | SCN4A | c.703+34C>G (n.703+34C>G)
| gnomAD v4 |
| 17 | g.63971128G>T | CA2639324957 | SCN4A | c.703+34C>A (n.703+34C>A)
| gnomAD v4 |
| 17 | g.63971129C>A | CA292972537 | SCN4A | c.703+33G>T (n.703+33G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971129C= | CA2270175200 | SCN4A | c.703+33G= (n.703+33G=)
| |
| 17 | g.63971130T>A | CA2639324960 | SCN4A | c.703+32A>T (n.703+32A>T)
| gnomAD v4 |
| 17 | g.63971130T>C | CA2639324964 | SCN4A | c.703+32A>G (n.703+32A>G)
| gnomAD v4 |
| 17 | g.63971131C>A | CA774007973 | SCN4A | c.703+31G>T (n.703+31G>T)
| dbSNP gnomAD v4 |
| 17 | g.63971131C= | CA2270175201 | SCN4A | c.703+31G= (n.703+31G=)
| |
| 17 | g.63971131C>G | CA2639324965 | SCN4A | c.703+31G>C (n.703+31G>C)
| gnomAD v4 |
| 17 | g.63971131C>T | CA2639324966 | SCN4A | c.703+31G>A (n.703+31G>A)
| gnomAD v4 |
| 17 | g.63971132A>G | CA2639324984 | SCN4A | c.703+30T>C (n.703+30T>C)
| gnomAD v4 |
| 17 | g.63971132A>T | CA2639324970 | SCN4A | c.703+30T>A (n.703+30T>A)
| gnomAD v4 |
| 17 | g.63971132dup | CA2270175202 | SCN4A | c.703+30dup (n.703+30dup)
| dbSNP |
| 17 | g.63971133G>A | CA2270175203 | SCN4A | c.703+29C>T (n.703+29C>T)
| dbSNP gnomAD v4 |
| 17 | g.63971133G= | CA2270175204 | SCN4A | c.703+29C= (n.703+29C=)
| |
| 17 | g.63971133G>T | CA2576356163 | SCN4A | c.703+29C>A (n.703+29C>A)
| gnomAD v4 |
| 17 | g.63971134G>A | CA2639324999 | SCN4A | c.703+28C>T (n.703+28C>T)
| gnomAD v4 |
| 17 | g.63971134G>T | CA2639325002 | SCN4A | c.703+28C>A (n.703+28C>A)
| gnomAD v4 |
| 17 | g.63971135C>A | CA2639325040 | SCN4A | c.703+27G>T (n.703+27G>T)
| gnomAD v4 |
| 17 | g.63971135C>T | CA2639325045 | SCN4A | c.703+27G>A (n.703+27G>A)
| gnomAD v4 |
| 17 | g.63971136A>G | CA2639325046 | SCN4A | c.703+26T>C (n.703+26T>C)
| gnomAD v4 |
| 17 | g.63971136A>T | CA2639325052 | SCN4A | c.703+26T>A (n.703+26T>A)
| gnomAD v4 |
| 17 | g.63971137G>C | CA8710077 | SCN4A | c.703+25C>G (n.703+25C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971137G= | CA2270175205 | SCN4A | c.703+25C= (n.703+25C=)
| |
| 17 | g.63971137G>T | CA2639325053 | SCN4A | c.703+25C>A (n.703+25C>A)
| gnomAD v4 |
| 17 | g.63971138A>C | CA2639325056 | SCN4A | c.703+24T>G (n.703+24T>G)
| gnomAD v4 |
| 17 | g.63971138A>G | CA2639325058 | SCN4A | c.703+24T>C (n.703+24T>C)
| gnomAD v4 |
| 17 | g.63971138A>T | CA2639325065 | SCN4A | c.703+24T>A (n.703+24T>A)
| gnomAD v4 |
| 17 | g.63971139G>A | CA2270175207 | SCN4A | c.703+23C>T (n.703+23C>T)
| dbSNP gnomAD v4 |
| 17 | g.63971139G= | CA2270175206 | SCN4A | c.703+23C= (n.703+23C=)
| |
| 17 | g.63971139G>T | CA626863608 | SCN4A | c.703+23C>A (n.703+23C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971140G>A | CA2639325091 | SCN4A | c.703+22C>T (n.703+22C>T)
| gnomAD v4 |
| 17 | g.63971140G>T | CA2639325095 | SCN4A | c.703+22C>A (n.703+22C>A)
| gnomAD v4 |
| 17 | g.63971141G>A | CA2639325096 | SCN4A | c.703+21C>T (n.703+21C>T)
| gnomAD v4 |
| 17 | g.63971141G>T | CA2576356164 | SCN4A | c.703+21C>A (n.703+21C>A)
| gnomAD v4 |
| 17 | g.63971142T>C | CA2639325098 | SCN4A | c.703+20A>G (n.703+20A>G)
| gnomAD v4 |
| 17 | g.63971142_63971143delinsTC | CA2270175208 | SCN4A | c.703+19_703+20delinsGA (n.703+19_703+20delinsGA)
| |
| 17 | g.63971143C>A | CA2639325120 | SCN4A | c.703+19G>T (n.703+19G>T)
| gnomAD v4 |
| 17 | g.63971143C>T | CA2576356165 | SCN4A | c.703+19G>A (n.703+19G>A)
| gnomAD v4 |
| 17 | g.63971145del | CA2270175209 | SCN4A | c.703+19del (n.703+19del)
| dbSNP gnomAD v4 |
| 17 | g.63971144C>A | CA2639325133 | SCN4A | c.703+18G>T (n.703+18G>T)
| gnomAD v4 |
| 17 | g.63971144C= | CA2270175210 | SCN4A | c.703+18G= (n.703+18G=)
| |
| 17 | g.63971144C>T | CA8710078 | SCN4A | c.703+18G>A (n.703+18G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971145C>A | CA2639325137 | SCN4A | c.703+17G>T (n.703+17G>T)
| gnomAD v4 |
| 17 | g.63971145C= | CA2270175211 | SCN4A | c.703+17G= (n.703+17G=)
| |
| 17 | g.63971145C>T | CA985437615 | SCN4A | c.703+17G>A (n.703+17G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971146T>A | CA2639325140 | SCN4A | c.703+16A>T (n.703+16A>T)
| gnomAD v4 |
| 17 | g.63971146T>C | CA2639325141 | SCN4A | c.703+16A>G (n.703+16A>G)
| gnomAD v4 |
| 17 | g.63971147del | CA2576356166 | SCN4A | c.703+15del (n.703+15del)
| |
| 17 | g.63971147G>A | CA2639325143 | SCN4A | c.703+15C>T (n.703+15C>T)
| gnomAD v4 |
| 17 | g.63971147G>T | CA2639325145 | SCN4A | c.703+15C>A (n.703+15C>A)
| gnomAD v4 |
| 17 | g.63971148C>A | CA2639325149 | SCN4A | c.703+14G>T (n.703+14G>T)
| gnomAD v4 |
| 17 | g.63971148C= | CA2270175212 | SCN4A | c.703+14G= (n.703+14G=)
| |
| 17 | g.63971148C>T | CA292972541 | SCN4A | c.703+14G>A (n.703+14G>A)
| dbSNP gnomAD v4 |
| 17 | g.63971149A>G | CA2639325152 | SCN4A | c.703+13T>C (n.703+13T>C)
| gnomAD v4 |
| 17 | g.63971150C>A | CA2639325154 | SCN4A | c.703+12G>T (n.703+12G>T)
| gnomAD v4 |
| 17 | g.63971150C>T | CA2639325155 | SCN4A | c.703+12G>A (n.703+12G>A)
| gnomAD v4 |
| 17 | g.63971151C>A | CA2639325159 | SCN4A | c.703+11G>T (n.703+11G>T)
| gnomAD v4 |
| 17 | g.63971151C= | CA2270175213 | SCN4A | c.703+11G= (n.703+11G=)
| |
| 17 | g.63971151C>G | CA626863609 | SCN4A | c.703+11G>C (n.703+11G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971151C>T | CA2639325162 | SCN4A | c.703+11G>A (n.703+11G>A)
| gnomAD v4 |
| 17 | g.63971152T>A | CA2639325171 | SCN4A | c.703+10A>T (n.703+10A>T)
| gnomAD v4 |
| 17 | g.63971152T>C | CA2639325178 | SCN4A | c.703+10A>G (n.703+10A>G)
| gnomAD v4 |
| 17 | g.63971153C>A | CA2639325185 | SCN4A | c.703+9G>T (n.703+9G>T)
| gnomAD v4 |
| 17 | g.63971153C= | CA2270175214 | SCN4A | c.703+9G= (n.703+9G=)
| |
| 17 | g.63971153C>T | CA292972542 | SCN4A | c.703+9G>A (n.703+9G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971156del | CA2576356167 | SCN4A | c.703+9del (n.703+9del)
| gnomAD v4 |
| 17 | g.63971154C>A | CA2639325196 | SCN4A | c.703+8G>T (n.703+8G>T)
| gnomAD v4 |
| 17 | g.63971154C= | CA2270175215 | SCN4A | c.703+8G= (n.703+8G=)
| |
| 17 | g.63971154C>T | CA626863610 | SCN4A | c.703+8G>A (n.703+8G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971155C>A | CA2576356168 | SCN4A | c.703+7G>T (n.703+7G>T)
| gnomAD v4 |
| 17 | g.63971156C>A | CA2639325210 | SCN4A | c.703+6G>T (n.703+6G>T)
| gnomAD v4 |
| 17 | g.63971156C= | CA2270175216 | SCN4A | c.703+6G= (n.703+6G=)
| |
| 17 | g.63971156C>T | CA8710079 | SCN4A | c.703+6G>A (n.703+6G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971157A= | CA2270175217 | SCN4A | c.703+5T= (n.703+5T=)
| |
| 17 | g.63971157A>G | CA8710080 | SCN4A | c.703+5T>C (n.703+5T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971158G>T | CA2639325220 | SCN4A | c.703+4C>A (n.703+4C>A)
| gnomAD v4 |
| 17 | g.63971159T>A | CA2576356169 | SCN4A | c.703+3A>T (n.703+3A>T)
| ClinVar |
| 17 | g.63971160A>C | CA400638190 | SCN4A | c.703+2T>G (n.703+2T>G)
| |
| 17 | g.63971160A>G | CA400638191 | SCN4A | c.703+2T>C (n.703+2T>C)
| |
| 17 | g.63971160A>T | CA400638192 | SCN4A | c.703+2T>A (n.703+2T>A)
| |
| 17 | g.63971161C>A | CA400638193 | SCN4A | c.703+1G>T (n.703+1G>T)
| ClinVar dbSNP |
| 17 | g.63971161C= | CA2270175218 | SCN4A | c.703+1G= (n.703+1G=)
| |
| 17 | g.63971161C>G | CA400638194 | SCN4A | c.703+1G>C (n.703+1G>C)
| gnomAD v4 |
| 17 | g.63971161C>T | CA400638195 | SCN4A | c.703+1G>A (n.703+1G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971162C>A | CA400638196 | SCN4A | c.703G>T (p.Gly235Trp)
| gnomAD v4 |
| 17 | g.63971162C>G | CA400638198 | SCN4A | c.703G>C (p.Gly235Arg)
| gnomAD v4 |
| 17 | g.63971162C>T | CA400638197 | SCN4A | c.703G>A (p.Gly235Arg)
| gnomAD v4 |
| 17 | g.63971163T>A | CA501226730 | SCN4A | c.702A>T (p.Pro234=)
| gnomAD v4 |
| 17 | g.63971163T>C | CA501226731 | SCN4A | c.702A>G (p.Pro234=)
| gnomAD v4 |
| 17 | g.63971163T>G | CA501226733 | SCN4A | c.702A>C (p.Pro234=)
| gnomAD v4 |
| 17 | g.63971164G>A | CA400638199 | SCN4A | c.701C>T (p.Pro234Leu)
| |
| 17 | g.63971164G>C | CA400638201 | SCN4A | c.701C>G (p.Pro234Arg)
| gnomAD v4 |
| 17 | g.63971164G>T | CA400638200 | SCN4A | c.701C>A (p.Pro234Gln)
| gnomAD v4 |
| 17 | g.63971165G>A | CA400638202 | SCN4A | c.700C>T (p.Pro234Ser)
| gnomAD v4 |
| 17 | g.63971165G>C | CA400638204 | SCN4A | c.700C>G (p.Pro234Ala)
| |
| 17 | g.63971165G>T | CA400638203 | SCN4A | c.700C>A (p.Pro234Thr)
| gnomAD v4 |
| 17 | g.63971166G>A | CA501226734 | SCN4A | c.699C>T (p.Ile233=)
| gnomAD v4 |
| 17 | g.63971166G>C | CA400638205 | SCN4A | c.699C>G (p.Ile233Met)
| |
| 17 | g.63971166G>T | CA501226736 | SCN4A | c.699C>A (p.Ile233=)
| |
| 17 | g.63971167A>C | CA400638206 | SCN4A | c.698T>G (p.Ile233Ser)
| |
| 17 | g.63971167A>G | CA400638207 | SCN4A | c.698T>C (p.Ile233Thr)
| |
| 17 | g.63971167A>T | CA400638208 | SCN4A | c.698T>A (p.Ile233Asn)
| gnomAD v4 |
| 17 | g.63971168T>A | CA400638209 | SCN4A | c.697A>T (p.Ile233Phe)
| |
| 17 | g.63971168T>C | CA400638210 | SCN4A | c.697A>G (p.Ile233Val)
| gnomAD v4 |
| 17 | g.63971168T>G | CA400638211 | SCN4A | c.697A>C (p.Ile233Leu)
| |
| 17 | g.63971169G>A | CA292972546 | SCN4A | c.696C>T (p.Val232=)
| dbSNP gnomAD v4 |
| 17 | g.63971169G>C | CA501226739 | SCN4A | c.696C>G (p.Val232=)
| |
| 17 | g.63971169G= | CA2270175219 | SCN4A | c.696C= (p.Val232=)
| |
| 17 | g.63971169G>T | CA501226740 | SCN4A | c.696C>A (p.Val232=)
| gnomAD v4 |
| 17 | g.63971170A= | CA2270175220 | SCN4A | c.695T= (p.Val232=)
| |
| 17 | g.63971170A>C | CA292972548 | SCN4A | c.695T>G (p.Val232Gly)
| dbSNP |
| 17 | g.63971170A>G | CA400638212 | SCN4A | c.695T>C (p.Val232Ala)
| gnomAD v4 |
| 17 | g.63971170A>T | CA400638213 | SCN4A | c.695T>A (p.Val232Asp)
| gnomAD v4 |
| 17 | g.63971171C>A | CA8710081 | SCN4A | c.694G>T (p.Val232Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971171C= | CA2270175221 | SCN4A | c.694G= (p.Val232=)
| |
| 17 | g.63971171C>G | CA400638215 | SCN4A | c.694G>C (p.Val232Leu)
| |
| 17 | g.63971171C>T | CA400638214 | SCN4A | c.694G>A (p.Val232Ile)
| gnomAD v4 |
| 17 | g.63971172C>A | CA501226744 | SCN4A | c.693G>T (p.Thr231=)
| gnomAD v4 |
| 17 | g.63971172C= | CA2270175222 | SCN4A | c.693G= (p.Thr231=)
| |
| 17 | g.63971172C>G | CA501226745 | SCN4A | c.693G>C (p.Thr231=)
| |
| 17 | g.63971172C>T | CA8710082 | SCN4A | c.693G>A (p.Thr231=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971173G>A | CA292972551 | SCN4A | c.692C>T (p.Thr231Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.63971173G>C | CA400638216 | SCN4A | c.692C>G (p.Thr231Arg)
| |
| 17 | g.63971173G= | CA2270175223 | SCN4A | c.692C= (p.Thr231=)
| |
| 17 | g.63971173G>T | CA400638217 | SCN4A | c.692C>A (p.Thr231Lys)
| gnomAD v4 |
| 17 | g.63971174_63971175del | CA2639325296 | SCN4A | c.691_692del (p.Thr231GlyfsTer?)
| gnomAD v4 |
| 17 | g.63971174T>A | CA400638218 | SCN4A | c.691A>T (p.Thr231Ser)
| gnomAD v4 |
| 17 | g.63971174T>C | CA292972553 | SCN4A | c.691A>G (p.Thr231Ala)
| dbSNP gnomAD v4 |
| 17 | g.63971174T>G | CA400638219 | SCN4A | c.691A>C (p.Thr231Pro)
| |
| 17 | g.63971174T= | CA2270175224 | SCN4A | c.691A= (p.Thr231=)
| |
| 17 | g.63971175G>A | CA501226747 | SCN4A | c.690C>T (p.Ile230=)
| gnomAD v4 |
| 17 | g.63971175G>C | CA400638220 | SCN4A | c.690C>G (p.Ile230Met)
| |
| 17 | g.63971175G>T | CA501226748 | SCN4A | c.690C>A (p.Ile230=)
| gnomAD v4 |
| 17 | g.63971176A= | CA2270175225 | SCN4A | c.689T= (p.Ile230=)
| |
| 17 | g.63971176A>C | CA400638221 | SCN4A | c.689T>G (p.Ile230Ser)
| |
| 17 | g.63971176A>G | CA400638222 | SCN4A | c.689T>C (p.Ile230Thr)
| dbSNP gnomAD v4 |
| 17 | g.63971176A>T | CA400638223 | SCN4A | c.689T>A (p.Ile230Asn)
| |
| 17 | g.63971177T>A | CA400638226 | SCN4A | c.688A>T (p.Ile230Phe)
| |
| 17 | g.63971177T>C | CA400638225 | SCN4A | c.688A>G (p.Ile230Val)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.63971177T>G | CA400638224 | SCN4A | c.688A>C (p.Ile230Leu)
| gnomAD v4 |
| 17 | g.63971178G>A | CA501226751 | SCN4A | c.687C>T (p.Thr229=)
| gnomAD v4 |
| 17 | g.63971178G>C | CA501226753 | SCN4A | c.687C>G (p.Thr229=)
| |
| 17 | g.63971178G>T | CA501226754 | SCN4A | c.687C>A (p.Thr229=)
| gnomAD v4 |
| 17 | g.63971179G>A | CA400638227 | SCN4A | c.686C>T (p.Thr229Ile)
| gnomAD v4 |
| 17 | g.63971179G>C | CA400638228 | SCN4A | c.686C>G (p.Thr229Ser)
| gnomAD v4 |
| 17 | g.63971179G>T | CA400638229 | SCN4A | c.686C>A (p.Thr229Asn)
| gnomAD v4 |
| 17 | g.63971179_63971180delinsGT | CA2270175226 | SCN4A | c.685_686delinsAC (p.Thr229=)
| |
| 17 | g.63971180T>A | CA400638230 | SCN4A | c.685A>T (p.Thr229Ser)
| |
| 17 | g.63971180T>C | CA400638231 | SCN4A | c.685A>G (p.Thr229Ala)
| ClinVar dbSNP |
| 17 | g.63971180T>G | CA400638232 | SCN4A | c.685A>C (p.Thr229Pro)
| |
| 17 | g.63971183del | CA2270175227 | SCN4A | c.685del (p.Thr229ProfsTer8)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.63971181T>A | CA400638233 | SCN4A | c.684A>T (p.Lys228Asn)
| gnomAD v4 |
| 17 | g.63971181T>C | CA501226756 | SCN4A | c.684A>G (p.Lys228=)
| |
| 17 | g.63971181T>G | CA400638234 | SCN4A | c.684A>C (p.Lys228Asn)
| |
| 17 | g.63971182T>A | CA400638235 | SCN4A | c.683A>T (p.Lys228Ile)
| gnomAD v4 |
| 17 | g.63971182T>C | CA400638236 | SCN4A | c.683A>G (p.Lys228Arg)
| gnomAD v4 |
| 17 | g.63971182T>G | CA400638237 | SCN4A | c.683A>C (p.Lys228Thr)
| |
| 17 | g.63971183T>A | CA400638240 | SCN4A | c.682A>T (p.Lys228Ter)
| dbSNP |
| 17 | g.63971183T>C | CA400638239 | SCN4A | c.682A>G (p.Lys228Glu)
| |
| 17 | g.63971183T>G | CA400638238 | SCN4A | c.682A>C (p.Lys228Gln)
| |
| 17 | g.63971183T= | CA2270175228 | SCN4A | c.682A= (p.Lys228=)
| |
| 17 | g.63971184G>A | CA501226759 | SCN4A | c.681C>T (p.Leu227=)
| gnomAD v4 |
| 17 | g.63971184G>C | CA501226761 | SCN4A | c.681C>G (p.Leu227=)
| gnomAD v4 |
| 17 | g.63971184G>T | CA501226762 | SCN4A | c.681C>A (p.Leu227=)
| gnomAD v4 |
| 17 | g.63971185A= | CA2270175229 | SCN4A | c.680T= (p.Leu227=)
| |
| 17 | g.63971185A>C | CA400638241 | SCN4A | c.680T>G (p.Leu227Arg)
| |
| 17 | g.63971185A>G | CA292972555 | SCN4A | c.680T>C (p.Leu227Pro)
| dbSNP gnomAD v4 |
| 17 | g.63971185A>T | CA400638242 | SCN4A | c.680T>A (p.Leu227His)
| gnomAD v4 |
| 17 | g.63971186G>A | CA8710083 | SCN4A | c.679C>T (p.Leu227Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971186G>C | CA400638243 | SCN4A | c.679C>G (p.Leu227Val)
| |
| 17 | g.63971186G= | CA2270175230 | SCN4A | c.679C= (p.Leu227=)
| |
| 17 | g.63971186G>T | CA292972558 | SCN4A | c.679C>A (p.Leu227Ile)
| dbSNP gnomAD v4 |
| 17 | g.63971188del | CA2576356170 | SCN4A | c.679del (p.Leu227SerfsTer10)
| |
| 17 | g.63971187G>A | CA501226764 | SCN4A | c.678C>T (p.Ala226=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971187G>C | CA501226766 | SCN4A | c.678C>G (p.Ala226=)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971187G= | CA2270175231 | SCN4A | c.678C= (p.Ala226=)
| |
| 17 | g.63971187G>T | CA501226768 | SCN4A | c.678C>A (p.Ala226=)
| gnomAD v4 |
| 17 | g.63971188G>A | CA400638244 | SCN4A | c.677C>T (p.Ala226Val)
| gnomAD v4 |
| 17 | g.63971188G>C | CA400638245 | SCN4A | c.677C>G (p.Ala226Gly)
| |
| 17 | g.63971188G= | CA2270175232 | SCN4A | c.677C= (p.Ala226=)
| |
| 17 | g.63971188G>T | CA400638246 | SCN4A | c.677C>A (p.Ala226Asp)
| gnomAD v4 |
| 17 | g.63971189C>A | CA400638247 | SCN4A | c.676G>T (p.Ala226Ser)
| gnomAD v4 |
| 17 | g.63971189C>G | CA400638248 | SCN4A | c.676G>C (p.Ala226Pro)
| gnomAD v4 |
| 17 | g.63971189C>T | CA400638249 | SCN4A | c.676G>A (p.Ala226Thr)
| gnomAD v4 |
| 17 | g.63971191dup | CA2270175233 | SCN4A | c.676dup (p.Ala226GlyfsTer?)
| dbSNP |
| 17 | g.63971190C>A | CA501226770 | SCN4A | c.675G>T (p.Arg225=)
| gnomAD v4 |
| 17 | g.63971190C= | CA2270175234 | SCN4A | c.675G= (p.Arg225=)
| |
| 17 | g.63971190C>G | CA501226772 | SCN4A | c.675G>C (p.Arg225=)
| |
| 17 | g.63971190C>T | CA8710084 | SCN4A | c.675G>A (p.Arg225=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971191C>A | CA292972561 | SCN4A | c.674G>T (p.Arg225Leu)
| dbSNP gnomAD v4 |
| 17 | g.63971191C= | CA2270175235 | SCN4A | c.674G= (p.Arg225=)
| |
| 17 | g.63971191C>G | CA400638250 | SCN4A | c.674G>C (p.Arg225Pro)
| |
| 17 | g.63971191C>T | CA8710085 | SCN4A | c.674G>A (p.Arg225Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971192G>A | CA8710086 | SCN4A | c.673C>T (p.Arg225Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971192G>C | CA400638251 | SCN4A | c.673C>G (p.Arg225Gly)
| |
| 17 | g.63971192G= | CA2270175236 | SCN4A | c.673C= (p.Arg225=)
| |
| 17 | g.63971192G>T | CA501226776 | SCN4A | c.673C>A (p.Arg225=)
| gnomAD v4 |
| 17 | g.63971193C>A | CA501226778 | SCN4A | c.672G>T (p.Leu224=)
| gnomAD v4 |
| 17 | g.63971193C>G | CA501226779 | SCN4A | c.672G>C (p.Leu224=)
| |
| 17 | g.63971193C>T | CA501226780 | SCN4A | c.672G>A (p.Leu224=)
| gnomAD v4 COSMIC |
| 17 | g.63971194A>C | CA400638252 | SCN4A | c.671T>G (p.Leu224Arg)
| |
| 17 | g.63971194A>G | CA400638253 | SCN4A | c.671T>C (p.Leu224Pro)
| gnomAD v4 |
| 17 | g.63971194A>T | CA400638254 | SCN4A | c.671T>A (p.Leu224Gln)
| ClinVar gnomAD v4 |
| 17 | g.63971195G>A | CA501226781 | SCN4A | c.670C>T (p.Leu224=)
| gnomAD v4 COSMIC |
| 17 | g.63971195G>C | CA400638255 | SCN4A | c.670C>G (p.Leu224Val)
| |
| 17 | g.63971195G>T | CA400638256 | SCN4A | c.670C>A (p.Leu224Met)
| gnomAD v4 |
| 17 | g.63971196C>A | CA501226786 | SCN4A | c.669G>T (p.Val223=)
| gnomAD v4 |
| 17 | g.63971196C>G | CA501226787 | SCN4A | c.669G>C (p.Val223=)
| |
| 17 | g.63971196C>T | CA501226784 | SCN4A | c.669G>A (p.Val223=)
| gnomAD v4 |
| 17 | g.63971197_63971198del | CA2639325541 | SCN4A | c.668_669del (p.Val223AlafsTer?)
| gnomAD v4 |
| 17 | g.63971197A>C | CA400638257 | SCN4A | c.668T>G (p.Val223Gly)
| |
| 17 | g.63971197A>G | CA400638258 | SCN4A | c.668T>C (p.Val223Ala)
| gnomAD v4 COSMIC |
| 17 | g.63971197A>T | CA400638259 | SCN4A | c.668T>A (p.Val223Glu)
| |
| 17 | g.63971198C>A | CA400638260 | SCN4A | c.667G>T (p.Val223Leu)
| gnomAD v4 |
| 17 | g.63971198C>G | CA400638261 | SCN4A | c.667G>C (p.Val223Leu)
| |
| 17 | g.63971198C>T | CA400638262 | SCN4A | c.667G>A (p.Val223Met)
| gnomAD v4 COSMIC |
| 17 | g.63971199C>A | CA501226793 | SCN4A | c.666G>T (p.Arg222=)
| gnomAD v4 |
| 17 | g.63971199C>G | CA501226792 | SCN4A | c.666G>C (p.Arg222=)
| |
| 17 | g.63971199C>T | CA501226790 | SCN4A | c.666G>A (p.Arg222=)
| gnomAD v4 |
| 17 | g.63971200C>A | CA292972564 | SCN4A | c.665G>T (p.Arg222Leu)
| dbSNP gnomAD v4 COSMIC |
| 17 | g.63971200C= | CA2270175237 | SCN4A | c.665G= (p.Arg222=)
| |
| 17 | g.63971200C>G | CA400638263 | SCN4A | c.665G>C (p.Arg222Pro)
| |
| 17 | g.63971200C>T | CA292972566 | SCN4A | c.665G>A (p.Arg222Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63971201G>A | CA345718 | SCN4A | c.664C>T (p.Arg222Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971201G>C | CA400638264 | SCN4A | c.664C>G (p.Arg222Gly)
| ClinVar gnomAD v4 |
| 17 | g.63971201G= | CA2270175238 | SCN4A | c.664C= (p.Arg222=)
| |
| 17 | g.63971201G>T | CA501226795 | SCN4A | c.664C>A (p.Arg222=)
| gnomAD v4 |
